Craniometaphyseal Dysplasia
| Classification according to ICD-10 | |
|---|---|
| Q78.8 | Other specified osteochondrodysplasias |
| ICD-10 online (WHO version 2019) | |
The Kraniometaphysäre dysplasia is a very rare congenital skeletal dysplasia with the main criteria of a cranial hyperostosis and developmental disorders of the metaphyses .
The syndrome was distinguished from Pyle syndrome in 1954 by WPU Jackson and coworkers .
distribution
The frequency is given as less than 1 in 1,000,000, around 70 patients have been described so far.
Cause and classification
Two forms can be distinguished according to inheritance and the underlying genetic mutations :
- Autosomal dominant inheritance with mutations in the ANKH gene at location 5p15.2, more common form
- Autosomal - recessive with mutations in the GJA1 gene at location 6q22.31
Clinical manifestations
Clinical criteria are:
- Manifestation in infancy , decreasing or absent in adulthood
- Increasing hyperostosis and sclerosis of the cranial and facial bones with a prominent forehead
- Bony nasal bulge with restriction of nasal breathing
- Hypertelorism
- Hyperplasia of the lower jaw
- Cranial nerve failure , especially of the facial nerve , occasional visual disturbances, hearing loss, disturbance of the sense of smell
diagnosis
The main focus of the diagnosis is the x-ray of the skeleton.
Typical findings are:
- Hyperostosis of the front occipital and the lower jaw
- Hyperplasia of the nasal bone
- Dolichocephalus
- Disturbance of tooth development
- Sclerosis of the base of the skull with congestion of the sinuses
- Abnormal configuration of the metaphyses of the long tubular bones , diaphyseal compression in the infant , later metaphyseal Erlenmeyer flask-like expansion of the tubular bones with thinned cortex , especially near the knee joint on the thighbone
- Inconspicuous spine and pelvic bones
Differential diagnosis
Among other things, the Lenz-Majewski syndrome must be differentiated .
treatment
Surgical corrections of the narrowing of the nasal passages are available for therapy.
There is an increased risk of obstructive sleep apnea .
literature
- C. Schröder, A. Quirin, HC Oppermann, HD Oldigs: Craniometaphyseal dysplasia - characteristic X-ray findings. In: Clinical Pediatrics. Vol. 204, No. 3, 1992 May-Jun, pp. 174-176, doi: 10.1055 / s-2007-1025346 , PMID 1614185 .
Individual evidence
- ↑ a b c Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
- ↑ WP JACKSON, F. Albright G. Drewry, J. HANELIN, MI RUBIN: metaphyseal dysplasia, epiphyseal dysplasia, diaphyseal dysplasia, and related conditions. I. Familial metaphyseal dysplasia and craniometaphyseal dysplasia; their relation to leontiasis ossea and osteopetrosis; disorders of bone remodeling. In: AMA archives of internal medicine. Vol. 94, No. 6, December 1954, pp. 871-885, PMID 13217486 .
- ↑ a b c Craniometaphyseal dysplasia. In: Orphanet (Rare Disease Database).
- ↑ CMDD. In: Online Mendelian Inheritance in Man . (English)
- ↑ CMDR. In: Online Mendelian Inheritance in Man . (English)
- ^ V Twigg, S. Carr, C. Peres, S. Mirza: Turbinoplasty surgery for nasal obstruction in craniometaphyseal dysplasia: A case report and review of the literature. In: International journal of pediatric otorhinolaryngology. Vol. 79, No. 6, June 2015, pp. 935-937, doi: 10.1016 / j.ijporl.2015.03.029 , PMID 25890400 .
- ^ WM Sheppard, RJ Shprintzen, SA Tatum, CI Woods: Craniometaphyseal dysplasia: a case report and review of medical and surgical management. In: International journal of pediatric otorhinolaryngology. Vol. 67, No. 6, June 2003, pp. 687-693, PMID 12745166 .
